Tuberous sclerosis with rhabdomyoma.

Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.

Tumores cardiacos fetales: diagnóstico ecográfico, evolución y tratamiento / Fetal cardiac tumors: diagnosis, clinical course and management

Objetivos: Analizar el diagnóstico ecográfico, la evolución y el tratamiento de los tumores cardiacos fetales diagnosticados en el Hospital La Paz de Madrid, entre los años 1995 y 2010. Método: Se realizó un estudio retrospectivo descriptivo recogiendo los principales datos ecográficos, de la historia clínica materna, neonatal y pediátrica. Resultados: En el periodo de estudio se diagnosticaron ecográficamente 28 tumores cardiacos fetales, 21 casos fueron catalogados como rabdomiomas. Once de ellos tuvieron una regresión prácticamente completa, con ocho casos diagnosticados hasta el momento de esclerosis tuberosa. Hubo 2 muertes intraútero, 1 interrupción legal del embarazo y 4 diagnósticos ecográficos de rabdomiomas, no se confirmaron al nacimiento. Se diagnosticaron prenatalmente dos fibromas; de ellos una gestante optó por la interrupción legal del embarazo y en el otro caso se produjo la muerte neonatal. Dos neonatos fueron sometidos a cirugía con una resección completa del tumor, con resultado anatomopatológico de heman-gioma capilar en uno y teratoma en el otro. En un caso se realizó una biopsia que confirmó la presencia de un hemangiopericitoma auricular que se redujo posteriormente con quimioterapia. Conclusiones: Los tumores cardiacos son una patología poco frecuente. La mayor parte de ellos son rabdomiomas, cuya sin-tomatología y evolución depende de su localización. Estos suelen regresar espontáneamente, pero pueden asociarse al diagnóstico de esclerosis tuberosa, lo que empeora su pronóstico.

Aims: To analize the diagnosis, clinical course and management of fetal cardiac tumors diagnosed at La Paz Hospital (Madrid) between 1995 and 2010. Methods: We performed a retrospective descriptive study collecting the main ultrasound dates of the maternal, newborn and pediatric history. Results: During the study period, 28 fetal cardiac tumors were dignosed. Rhabdomyomas were diagnosed in 21 fetuses; 11 rhabdom-yomas returned almost completely. Eight of them were diagnosed of tuberous sclerosis up to the moment. Other two cases died in utero. One pregnant decided to be practised a miscarriage and four rhabdomyomas which were diagnosed by ultrasound, were not found in the newborns. Two fibroms were diagnosed by ultrasound; one of the pregnant woman decided to be practised a miscarriage and the other fetus died when he was born. Two newborns were operated, with the pathological anatomy result of a hemangioma and a teratoma. A biopsy was made that confirmed the presence of an atrial hemangiopericitoma which was treated by quimiotherapy. Conclusion: Fetal cardiac tumors are a rare disease. Most of them are rhabdomyomas which syntomatology and clinical course depend on its location. They usually regret spontaneously, but they can be associated with tuberous sclerosis, and this aggravates their prognosis.

Comportamiento clínico de los tumores cardíacos desde el feto hasta el adulto: serie multicéntrica de 38 pacientes / Cardiac tumors in children and adults: A retrospective study

Background: Cardiac tumors are very uncommon at all ages. There are important clinical differences between children and adults in the behavior of these tumors. Aim: To compare the behavior of primary and secondary cardiac tumors, from fetal age to adults. Patients and Method: Multicentric retrospective analysis of 38 children and adults with cardiac tumors, evaluated with echocardiography between January 1995 and August 2001. Medical records, echocardiographic and radiological examinations, surgical protocols and pathologic examinations were reviewed. Follow-up was obtained through data on medical records or calling patients by telephone. Results: Tumors were diagnosed in 38 patients (13 children and 25 adults), from a total of 31.800 echocardiograms. In children the diagnosis was made by fetal, transthoracic or transesophageal echocardiography in 23.6 percent and 8 percent of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15 percent, secondary tumors. Fifty four percent were rhabdomyomas and 75 percent regressed spontaneously. Seventy seven percent were symptomatic and 31 percent were treated with surgery. During a follow up of 44±35 months, 31 percent of patients died. In adults, 76 percent of tumors were diagnosed by transthoracic and 20 percent by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24 percent secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84 percent were treated surgically. Twenty percent of patients died in the early postoperative period. No adult patients had a follow-up. Conclusions: Rhabdomyomas were solely found in children. In adults, myxomas are the predominat cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.